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Int J Mol Sci 2022 Apr 22;23(9). Epub 2022 Apr 22.

Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.

Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This results in a block in the use of muscle glycogen as an energetic substrate, with subsequent exercise intolerance. The pathobiology of GSDV is still not fully understood, especially with regard to some features such as persistent muscle damage (i. Read More

Acta Myol 2022 Mar 31;41(1):37-40. Epub 2022 Mar 31.

Section of Neurology, Department of Biomedicine, Neuroscience, and advanced Diagnostic (BiND), University of Palermo, Palermo, Italy.

McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene () resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical exercise, although late onset forms are also reported. We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. Read More

Obstet Med 2022 Mar 27;15(1):40-44. Epub 2021 May 27.

Division of General Internal Medicine, Department of Medicine, Dalhousie University, Halifax, NS, Canada.

McArdle disease is an autosomal recessive disorder affecting skeletal muscle glycogen metabolism. Limited data are available regarding pregnancy outcomes with this genetic condition. We present a recent case of a woman with McArdle disease, along with a scoping review of all published literature regarding pregnancy and delivery outcomes for women with McArdle disease. Read More

Muscle Nerve 2022 05 26;65(5):568-573. Epub 2022 Feb 26.

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

Introduction/aims: Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been reported to date. We aimed to examine the pattern of muscle fat replacement in patients with McArdle disease.

Methods: We performed a retrospective study including all patients with genetically confirmed McArdle disease followed in our center from January 2010 to March 2021. Read More

J Inherit Metab Dis 2022 05 20;45(3):502-516. Epub 2022 Feb 20.

Copenhagen Neuromuscular Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Patients with glycogen storage disease type V (GSDV), also known as McArdle disease, have blocked glycogen breakdown due to myophosphorylase deficiency, leading to exercise intolerance, muscle pain, and risk of muscle damage. Blood-derived ketone bodies (KBs) constitute an alternative energy source that could fuel the muscle independent of glycogenolysis. However, except for long-time fasting or ketogenic dieting, KBs are present in low quantities. Read More

J Neurol Sci 2022 Mar 21;434:120153. Epub 2022 Jan 21.

Division of Neuropathology, UFSC, Florianopolis, SC, Brazil; Neurodiagnostic Brazil - Diagnósticos em Neuropatologia, Florianopolis, SC, Brazil. Electronic address:

Genes (Basel) 2021 12 28;13(1). Epub 2021 Dec 28.

Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain.

McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute "crises" of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. Read More

Cold Spring Harb Mol Case Stud 2022 02 24;8(2). Epub 2022 Mar 24.

Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.

McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a history of exercise intolerance since adolescence who was evaluated for proximal muscle weakness. Exome sequencing identified biallelic variants in the gene for both cases. Read More

Neuromuscul Disord 2022 01 5;32(1):5-14. Epub 2021 Aug 5.

APHP, Service de Radiologie GH Université Paris-Saclay DMU Smart Imaging, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches 94400, France; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France; UMR 1179, Université Versailles Saint Quentin en Yvelines, Paris Saclay, France.

This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was performed on fifteen genetically confirmed McArdle disease patients between ages 25 to 80. The degree of fatty substitution was scored for 60 muscles using Mercuri's classification. Read More

J Inherit Metab Dis 2021 11 22;44(6):1409-1418. Epub 2021 Sep 22.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK.

McArdle disease is caused by recessive mutations in PYGM gene. The condition is considered to cause a "pure" muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities, contracture, and acute rhabdomyolysis leading to acute renal failure. This is a retrospective observational study aiming to describe phenotypic and genotypic features of a large cohort of patients with McArdle disease between 2011 and 2019. Read More

Curr Opin Endocrinol Diabetes Obes 2021 10;28(5):441-445

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Purpose Of Review: To highlight the benefits of a partnership between patient advocacy organizations (PAO) and clinical researchers in order to clinically study the prior anecdotal patient experience of utilizing a low-carbohydrate ketogenic diet (LCKD) to manage McArdle disease.

Recent Findings: The bedside-to-bench and back again method of translational research is well suited to explore anecdotal patient experiences, particularly for rare diseases. In McArdle disease, patients have explored the use of a LCKD to address the ubiquitous occurrence of physical activity intolerance and minimize associated adverse events. Read More

Neuromuscul Disord 2021 08 30;31(8):695-700. Epub 2021 May 30.

Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, 1345, Govan Road, Glasgow G51 4TF, UK. Electronic address:

This retrospective study evaluated the phenotypic and genotypic features of 14 patients with McArdle disease attending the West of Scotland adult muscle clinic. Although all patients experienced exercise-induced cramps, exercise intolerance and hyperCKaemia, only 71% (n = 10) experienced the second wind phenomenon, rhabdomyolysis and/or myoglobinuria. We observed a high rate of fixed muscle weakness (50%; n = 7), coronary artery disease (36%; n = 5), and psychological comorbidity (50%; n = 7). Read More

Harefuah 2021 Jun;160(6):377-381

Child Health and Sports Center, Meir Medical Center.

Introduction: McArdle disease (Glycogen storage disease type V) is a myopathy caused by an inherited deficit of muscle glycogen phosphorylase (PYGM). Since glycogen is an important fuel for muscular activity, people with McArdle's disease experience exercise intolerance. Dynamic or static vigorous exercise may lead to rhabdomyolysis, myoglobinuria and renal failure. Read More

Clin Med Res 2021 Jun 13;19(2):90-93. Epub 2021 May 13.

Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA

McArdle disease, also known as glycogen storage disease type V, is an autosomal recessive disease due to the absence of myophosphorylase activity, leading to the complete disruption of glycogen breakdown in muscles. We present a rare case of a Caucasian male, aged 26 years, who developed rhabdomyolysis-induced acute renal failure and uremic encephalopathy. Neurological examination and histopathological studies supported the diagnosis of McArdle disease. Read More

Cells 2021 04 13;10(4). Epub 2021 Apr 13.

Department of Animal Developmental Biology, Faculty of Biological Sciences, University of Wroclaw, 50-335 Wroclaw, Poland.

Glycogen phosphorylase (PG) is a key enzyme taking part in the first step of glycogenolysis. Muscle glycogen phosphorylase (PYGM) differs from other PG isoforms in expression pattern and biochemical properties. The main role of PYGM is providing sufficient energy for muscle contraction. Read More

Neurology 2021 05 9;96(21):1007-1009. Epub 2021 Apr 9.

From the Neuromuscular Disorders Unit (C.D.-G.), Department of Neurology (D.S.-T., L.P., C.D.-G.), Laboratory of Mitochondrial Diseases, Department of Biochemistry, Instituto de Investigación (M.A.M.), and Departments of Clinical Genetics (M.I.Á.-M.) and Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.A.M., C.D.-G.), Instituto de Salud Carlos III, Madrid; Department of Biochemistry and Molecular Genetics (M.I.Á.-M.), Hospital Clínic of Barcelona; and Hospital 12 de Octubre Research Institute (imas12) (C.D.-G.), Madrid, Spain.

Ophthalmol Retina 2021 02;5(2):117

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.

Clin Biomech (Bristol, Avon) 2021 02 23;82:105277. Epub 2021 Jan 23.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

Background: McArdle sign is a phenomenon of impaired gait and muscle weakness that occurs with neck flexion, immediately reversible with neck extension. A recent report measured the specificity of this sign for multiple sclerosis by measuring differences in peak torque of the extensor digitorum between neck extension and flexion.

Methods: This substudy included 73 participants (29 multiple sclerosis, 20 non-multiple sclerosis myelopathies, 5 peripheral nerve disorders, and 19 healthy controls). Read More

Lupus 2021 Apr 17;30(5):697-701. Epub 2021 Jan 17.

Department of Neurology, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, USA.

Background: Postural tachycardia syndrome (POTS) is a heterogenous disorder of the autonomic nervous system that is commonly associated with small fiber neuropathy, Ehlers-Danlos Syndrome and autoimmune disorders, but association with rare conditions may also occur.

Methods: Reported here are clinical features, diagnostic tests and treatment outcomes of 6 unique patients who presented with POTS and were subsequently diagnosed with Fabry disease, McArdle disease, Complex V mitochondrial disease, carcinoid tumor, Hodgkin's lymphoma and chemotherapy-induced neuropathy.

Results: All patients (age range 15-57 years, 3 females, 3 males) presented with orthostatic intolerance of at least 6 months duration, and all patients had co-morbid small fiber neuropathy. Read More

Stem Cell Res 2020 12 3;49:102108. Epub 2020 Dec 3.

Grupo de Investigación Traslacional con Células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain. Electronic address:

Peripheral blood mononuclear cells (PBMCs) from a McArdle patient carrying a homozygous mutation in the PYGM gene: c.2392 T > C; p.Trp798Arg were used for the generation of the human iPSC line, IISHDOi007-A. Read More

Pathology 2021 08 10;53(5):670-673. Epub 2020 Dec 10.

Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong. Electronic address:

Orphanet J Rare Dis 2020 11 24;15(1):330. Epub 2020 Nov 24.

Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark.

Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Read More

BMC Geriatr 2020 11 5;20(1):451. Epub 2020 Nov 5.

Internal Medicine Service, Oswaldo Cruz German Hospital, Rua Treze de Maio, 1815 - Bairro Bela Vista, São Paulo, SP, 01323-020, Brazil.

Background: McArdle disease is a myopathy caused by mutations in PYGM gene that is characterized by reduced or absent activity of myophosphorylase. Reports of patients with concomitant McArdle disease and diabetes are scarce. We report a case of a patient with a late diagnosis of McArdle disease and we postulate that symptoms may be related to hypoinsulinemia. Read More

Orphanet J Rare Dis 2020 10 15;15(1):187. Epub 2020 Oct 15.

Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.

Background: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders.

Results: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. Read More

Neuromuscul Disord 2020 10 25;30(10):862-865. Epub 2020 Aug 25.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.

The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disease type V (GSDV). Age, height, body mass and gender are known predictors of walking distance in other patient groups. Reference values to correct for these predictors are necessary for comparisons between individuals. Read More

Med Clin (Barc) 2021 10 17;157(7):349-350. Epub 2020 Aug 17.

Servicio de Endocrinología y Nutrición, Complexo Hospitalario Universitario de Pontevedra, Pontevedra, España.

Neuromuscul Disord 2020 09 16;30(9):734-741. Epub 2020 May 16.

UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, United Kingdom. Electronic address:

McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic strategy. Read More

Curr Opin Endocrinol Diabetes Obes 2020 10;27(5):283-290

Centre for Human Performance, Exercise and Rehabilitation, Brunel University, London, UK.

Purpose Of Review: To explore the potential of a low carbohydrate ketogenic diet (LCKD) to counter physical activity intolerance, pain and muscle damage for glycogen storage disease (GSD) V and VII, and highlight the realistic possibility that nutrition could be key.

Recent Findings: Carbohydrate (CHO) ingestion during physical activity in GSDV and a LCKD for GSDVII is common. For the latter, a long-term study demonstrated improvement in physiological markers while on a LCKD. Read More

PLoS One 2020 31;15(7):e0236597. Epub 2020 Jul 31.

Laboratório de análises clínicas do Centro Universitário Saúde ABC, Santo Andre, São Paulo, Brazil.

Introduction: McArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and genetic aspects of the disease as a set have not been studied previously. Read More

Int J Environ Res Public Health 2020 06 17;17(12). Epub 2020 Jun 17.

GENUD Toledo Research Group, Universidad de Castilla-La Mancha, 45071 Toledo, Spain.

McArdle disease (glycogenosis-V) is associated with exercise intolerance, however, how it affects an important marker of cardiometabolic health as it is adiposity remains unknown. We evaluated the association between physical activity (PA) and adiposity in patients with McArdle disease. We assessed 199 adults of both sexes (51 McArdle patients (36 ± 11 years) and 148 healthy controls (35 ± 10 years)). Read More